FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term methylmalonic acidemia ID (Ontology) DOID:14749 (Human Disease)
Definition An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Also Known As "methylmalonic aciduria"
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  amino acid metabolic disorder
   |__organic acidemia
       |__methylmalonic acidemia  5 rec.
           |__methylmalonic acidemia and homocysteinemia cblX type 1 rec.
           |__methylmalonic acidemia cblA type
           |__methylmalonic acidemia cblB type
           |__methylmalonic acidemia due to transcobalamin receptor defect
           |__methylmalonic aciduria and homocystinuria type cblC 2 rec.
           |__methylmalonic aciduria and homocystinuria type cblD 2 rec.
           |__methylmalonic aciduria and homocystinuria type cblE
           |__methylmalonic aciduria and homocystinuria type cblF
           |__methylmalonic aciduria and homocystinuria type cblG
           |__methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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Is a organic acidemia
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Synonyms
  • "methylmalonic aciduria" EXACT
Secondary IDs
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GARD:7033
MESH:C537358